Diamond-Blackfan Anemia
A rare inherited failure to make red blood cells
Quick Facts
- Type: Inherited bone marrow failure disorder
- Appears: Usually in the first year of life
- Main problem: Too few red blood cells
- Often linked: Some physical differences at birth
Overview
Diamond-Blackfan anemia (DBA) is a rare disorder of the bone marrow, the tissue inside bones that makes blood cells. In DBA, the marrow cannot make enough red blood cells, the cells that carry oxygen around the body. This leads to anemia that usually appears within the first year of life. White blood cells and platelets are typically normal.
DBA is present from birth and is usually caused by changes in genes needed to build red blood cells. Many affected children also have certain physical differences, such as features of the face, hands, or heart, although these vary widely. Because it is lifelong and rare, DBA is managed by specialists, and treatment focuses on maintaining healthy red cell levels while monitoring for related complications.
Symptoms
Symptoms usually appear in infancy and are mainly those of anemia:
- Pale skin
- Tiredness, sleepiness, and poor feeding
- Rapid heartbeat and breathing
- Irritability
- In some children, slow growth
Some children with DBA also have physical differences present from birth, which can include features of the head and face, abnormalities of the thumbs or hands, short stature, or heart and kidney differences. The range is wide, and some children have anemia with few or no other features.
Causes
DBA is usually caused by a change (mutation) in one of several genes involved in building ribosomes, the cell structures that make proteins. These changes specifically impair the production of red blood cells in the bone marrow. The reason red cells are especially affected is the basis of ongoing research.
In many cases the gene change is inherited from a parent, but it can also arise newly in a child with no family history. Inheritance, when it occurs, usually follows an "autosomal dominant" pattern, meaning one altered copy of the gene is enough to cause the condition. Genetic testing can identify the gene change in many, though not all, affected people.
Risk Factors
- A parent or close relative with Diamond-Blackfan anemia
- A known DBA gene change in the family
- In many children, no family history, as the change can be new
DBA is not caused by anything the parents did or did not do, and it cannot be caught from others. Genetic counseling can help families understand inheritance and risks for future children.
Diagnosis
Diagnosis combines blood tests, bone marrow examination, and genetic testing:
- Blood tests: Show anemia with a very low number of young red cells, while white cells and platelets are usually normal.
- Bone marrow examination: Reveals a marked lack of the cells that develop into red blood cells.
- Specialized blood markers: Certain tests can support the diagnosis.
- Genetic testing: Identifies a known DBA gene change in many cases and helps confirm the diagnosis and guide family counseling.
Doctors also distinguish DBA from other causes of red cell failure in infancy.
Treatment
Treatment aims to keep red cell levels healthy and manage the condition over the long term, guided by a specialist team:
- Corticosteroids: Many people respond to steroid medicines, which can stimulate red cell production. The lowest effective dose is used to limit side effects.
- Blood transfusions: Regular transfusions for those who do not respond to or cannot take steroids, with treatment to prevent iron overload from repeated transfusions.
- Stem cell (bone marrow) transplant: Can cure the marrow failure and is considered in selected cases, particularly when other treatments are not working.
- Monitoring: Regular checks of blood counts, growth, iron levels, and for other complications associated with DBA.
Some children have periods where the anemia improves, and a minority enter remission. Care is individualized and lifelong.
Living With DBA
DBA cannot be prevented because it is genetic, but careful management supports health and growth:
- Attend regular specialist follow-up and blood tests
- Take steroids exactly as prescribed and never stop them suddenly
- Watch for and treat iron overload in those receiving regular transfusions
- Keep up with vaccinations and prompt treatment of infections
- Consider genetic counseling for the family
When to See a Doctor
Families of a child with DBA should keep regular specialist appointments and contact the care team if the child becomes increasingly pale, very tired, breathless, or feeds poorly, which can signal worsening anemia. Seek urgent care for:
- Severe breathlessness, a very fast heartbeat, or extreme lethargy
- High fever or signs of serious infection, especially in those on steroids
- Collapse or unresponsiveness
If a child has unexplained pallor and tiredness from infancy, see a doctor promptly so the cause can be identified and treated.
Frequently Asked Questions
What is Diamond-Blackfan anemia?
It is a rare, usually inherited bone marrow disorder in which the marrow cannot make enough red blood cells, leading to anemia that appears in the first year of life. White cells and platelets are typically normal.
What causes Diamond-Blackfan anemia?
It is usually caused by a change in one of several genes needed to build the cell structures that make proteins, which specifically impairs red blood cell production. The change can be inherited or arise new in a child with no family history.
How is Diamond-Blackfan anemia treated?
Many people respond to corticosteroid medicines that stimulate red cell production. Others need regular blood transfusions with treatment to prevent iron overload. A stem cell transplant can cure the marrow failure and is considered in selected cases.
Is Diamond-Blackfan anemia inherited?
It can be. When inherited, it usually follows a pattern where one altered gene copy is enough to cause it, but it often arises new in a child with no family history. Genetic counseling helps families understand the risk for future children.
Can children with DBA live normal lives?
With ongoing specialist care, many children manage well, attend school, and grow up, though treatment is lifelong and individualized. Some have periods where anemia improves, and a minority enter remission. Regular monitoring helps manage complications.
References
- MedlinePlus, U.S. National Library of Medicine. Diamond-Blackfan anemia.
- Genetic and Rare Diseases Information Center (GARD), National Institutes of Health.
- National Organization for Rare Disorders (NORD). Diamond-Blackfan anemia.
- National Heart, Lung, and Blood Institute (NHLBI). Anemia.